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Determination of Fatty Acid Oxidation and Lipogenesis in Mouse Primary Hepatocytes
12:11

Determination of Fatty Acid Oxidation and Lipogenesis in Mouse Primary Hepatocytes

Published on: August 27, 2015

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Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects

Aathira Ravindranath1, Gautham Pai1, Anshu Srivastava2

  • 1Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226 014, India.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology
|October 27, 2017
PubMed

Insights

Fatty acid oxidation defects (FAOD) are common metabolic liver diseases. Early diagnosis and treatment, including carnitine supplementation, lead to excellent outcomes in affected infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fatty acid oxidation defects (FAODs) are a frequent cause of metabolic liver disease (MLD).
  • FAODs present with diverse clinical manifestations across various age groups.

Observation:

  • An infant presented with jaundice, irritability, and hepatomegaly.
  • Investigations revealed non-ketotic hypoglycemia, indicative of FAOD.

Findings:

  • The infant was diagnosed with a carnitine uptake defect via gas chromatography-mass spectrometry and mutation analysis.
  • Treatment with metabolic crisis management, carnitine supplementation, and corn starch therapy led to recovery.

Implications:

  • Non-ketotic hypoglycemia is a key indicator for FAODs.
  • Prompt diagnosis and management of FAODs are crucial for favorable patient outcomes.
  • This case highlights the importance of early intervention in metabolic liver diseases.

Keywords:
Fatty acid oxidation defectsHepatomegalyHypoglycemiaMetabolic liver diseasePrimary carnitine deficiency

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